Varaico: Literature-Extracted Genetic Variants

Gene:BIRC2
Variant:p.E23A

BIRC2

175 papers

RefSeq Summary

The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering wi...

Pfam Domains

BIRaa 49–114UCSCInhibitor of Apoptosis domain
BIRaa 187–251UCSCInhibitor of Apoptosis domain
BIRaa 272–337UCSCInhibitor of Apoptosis domain
UBA_BIRC2-3aa 388–440UCSCBIRC2/3-like, UBA domain
CARDaa 458–542UCSCCaspase recruitment domain
zf-C3HC4_3aa 567–612UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

baculoviral IAP repeat containing 2

HGNC Previous Symbol

API1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001166.5
p.E23A
c.68A>C
Surrounding Variants
1 paper
NM_001166.5
p.M22I
c.66G>A
1 paper
NM_001166.5
p.M22L
c.64A>C
1 paper
NM_001166.5
p.M22L
c.64A>T
1 paper
NM_001166.5
p.T26T
c.78G>A
1 paper
NM_001166.5
p.K19fs
c.55_56fs
1 paper
NM_001166.5
p.K19delFs
c.55delA
1 paper
NM_001166.5
p.S29P
c.85T>C
1 paper
NM_001166.5
p.W31*
c.93G>A
2 papers
NM_001166.5
p.G12D
c.35G>A
1 paper
NM_001166.5
p.G12S
c.34G>A
1 paper
NM_001166.5
p.K38delFs
c.112_113delAA
1 paper
NM_001166.5
p.L9R
c.26T>G
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